Clinical Neuropathology最新文献

{"title":"Clinico-pathological and molecular characteristics of pediatric-juvenile pituitary neuroendocrine tumors (PitNETs): A mono-institutional series.","authors":"Anna Maria Buccoliero, Laura Giunti, Abramo Ponticelli, Lorenzo Innocenti, Franco Ricci, Valentina Cetica, Bianca Tirinnanzi, Selene Moscardi, Stefano Stagi, Iacopo Sardi, Federico Mussa, Lorenzo Genitori, Mirko Scagnet","doi":"10.5414/NP301685","DOIUrl":"10.5414/NP301685","url":null,"abstract":"<p><p>Our purpose was to provide a clinical-pathological overview, evaluate the prognostic value of Ki-67 and p53 in pediatric-juvenile pituitary neuroendocrine tumors (PitNETs) and explore the incidence of somatic variants in SF3B1 in pediatric-juvenile lactotroph PitNET. We present a clinical, morphological, immunohistochemical, and molecular study of 30 patients aged 8 - 20 years (16 females, 53%; 14 males, 47%). Clinical data were available for 21 patients (70%). Nine patients (43%) had mass effect symptoms. Imaging was available for 25 cases (83%). 21 patients (84%) had macro-PitNET or giant PitNET. Most tumors were lactotroph PitNETs (22 cases, 73%). Nine patients out of 22 lactotroph PitNET (41%) were male. Ki-67 and p53 immunostaining were performed in 27 cases. 15 tumors (56%) were p53 positive and exhibited a high Ki-67 index. Of these, 12 tumors (80%) were macro-PitNETs or giant PitNETs. Eight tumors (30%) were p53 negative and had low Ki-67 index, with 5 of these classified as macro-PitNETs (100% of the cases for which this data was available). Genetic analysis of the recurrent <i>SF3B1</i> c.1874G>A p.Arg625His was negative in all 15 tested tumors. In conclusion, pediatric-juvenile PitNETs are often large lesions causing mass effects in almost half of the cases. In our cohort, lactotroph PitNETs were the most frequent PitNETs and present without sex predilection. <i>SF3B1</i> mutations, documented in a proportion of adult lactotroph PitNETs, were not observed in our cohort, potentially hinting at a different molecular background. Our results did not reveal any association between Ki-67 and p53 status and tumor size or invasiveness in pediatric-juvenile PitNETs.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intracranial mesenchymal tumor with EWSR1-rearrangement (FET::CREB family): A case series with clinico-radiological and pathological correlation and review of literature.","authors":"Moiom H Phom, Sumanta Das, Bheru Dan Charan, Vaishali Suri, Saumya Sahu, Ajay Garg, Sachin Borkar, Ashish Suri, Mehar Chand Sharma","doi":"10.5414/NP301682","DOIUrl":"10.5414/NP301682","url":null,"abstract":"<p><p>Intracranial mesenchymal tumors with female expressed transcript::cyclic AMP responsive element binding protein (FET::CREB) fusion, characterized by Ewing sarcoma breakpoint region 1/EWS RNA binding protein 1 (EWSR1) rearrangements, represent a rare and complex category of neoplasms with varied morphologies and significant diagnostic challenges. These tumors commonly occur in young adults, presenting as dural-based masses with solid and cystic components on radiological imaging, often mimicking meningioma. Histopathologically, they exhibit a spectrum of features, including spindle, stellate, and epithelioid cells within myxoid or collagenous stroma, occasionally with hemangioma-like vasculature or chronic inflammatory infiltrates. Immunohistochemistry typically reveals strong positivity for cluster of differentiation 99 (CD99) and epithelial membrane antigen (EMA), with variable expression of Desmin, S100, and MUCIN 4 (MUC4). Molecular studies confirm EWSR1 rearrangements via fluorescence in situ hybridization (FISH), while RNA sequencing further elucidates specific fusion partners, such as cyclic AMP response element binding protein (CREB)1 or ATF1. Differential diagnosis includes solitary fibrous tumors, inflammatory myofibroblastic tumors, and chordoid meningiomas, necessitating thorough morphological and immunohistochemical analysis. Emerging genomic profiling divides these tumors into two epigenetic subgroups with distinct molecular and clinical profiles, influencing prognosis and progression-free survival. This case series highlights five instances of such tumors, underscoring the importance of recognizing their unique histopathological and molecular characteristics for accurate diagnosis. While the study employed FISH for cost-effective analysis, the absence of RNA sequencing limits identification of fusion partners. Overall, the study contributes valuable insights into these rare tumors, advancing understanding of their pathology and potential clinical implications.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Neuropathology 3-2025.","authors":"Christian Mawrin","doi":"10.5414/NPP44081","DOIUrl":"10.5414/NPP44081","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of 10q loss, <i>CDKN2A</i> deletions, <i>EGFR</i> amplification, and trisomy of chromosome 7 in the overall survival of IDH-mutant astrocytoma.","authors":"Mónica B Mezmezian, Naomi Arakaki, Blanca Diez, Horacio Martinetto, Gustavo Sevlever","doi":"10.5414/NP301667","DOIUrl":"10.5414/NP301667","url":null,"abstract":"<p><strong>Introduction: </strong>Since progression from grade 2 to grade 4 occurs in the evolution of IDH-mutant astrocytoma (A, IDH-mut), it is crucial to identify the key factors that define the different grades.</p><p><strong>Aims: </strong>To evaluate the impact on overall survival (OS) of molecular alterations traditionally associated with high-grade gliomas within the grading scheme.</p><p><strong>Materials and methods: </strong>We retrospectively analyzed the role of 10q loss, <i>CDKN2A</i> deletions, <i>EGFR</i> amplification (Amp), and trisomy of chromosome 7 (trisomy 7) in 189 A, IDH-mut, reclassified according to the WHO 2021 criteria (grade 2, n = 133; grade 3, n = 18; grade 4, n = 38).</p><p><strong>Results: </strong>Among the 189 cases, 29 presented with <i>CDKN2A</i> hemizygous deletion (hemidel), 17 with <i>CDKN2A</i> homozygous deletion, 18 showed trisomy 7, and 2 showed <i>EGFR</i> Amp. A multivariate test revealed that WHO grade 4 and trisomy 7 significantly impacted OS. <i>CDKN2A</i> hemidel and 10q loss did not influence OS in our cohort. Given that 11 out of 18 cases with trisomy 7 were IDH-mutant grade 2 (G2), we compared G2 cases with and without trisomy 7 and found worse OS in cases with trisomy (p = 0.0034), similar to WHO grade 4.</p><p><strong>Conclusion: </strong>Our results suggest that trisomy 7 plays a significant role in the OS of A, IDH-mut. Further research is needed to determine whether trisomy 7 is an independent marker or if it is associated with other molecular alterations that affect OS.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144113112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary intracranial smooth muscle tumors in immunocompromised patients.","authors":"Hema A Venkatappa, Shilpa Rao, Anita Mahadevan, Pari Kodaiyarasan","doi":"10.5414/NP301675","DOIUrl":"10.5414/NP301675","url":null,"abstract":"<p><p>Primary intracranial smooth muscle tumors are rare and range from benign to malignant. We report 2 patients with primary intracranial smooth muscle neoplasms in immunocompromised host, 1 patient each with primary intracranial leiomyoma and primary intracranial leiomyosarcoma, both of whom clinically and radiologically mimicked meningioma. Both patients were human immunodeficiency virus (HIV) positive. Hence, smooth muscle neoplasms should be considered in the differential diagnosis of well-circumscribed intracranial lesion, especially in immunocompromised patients.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144113113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent isolated orbital neurofibromas in the absence of NF-1: Clinical insights and diagnostic challenges.","authors":"Hilal Toprak Tellioglu, Irem Koc, Hayyam Kiratli, Selma Yeni Yildirim, Figen Söylemezoglu","doi":"10.5414/NP301683","DOIUrl":"https://doi.org/10.5414/NP301683","url":null,"abstract":"<p><p>Orbital neurofibromas are benign tumors originating from the peripheral nerve sheath, often linked to neurofibromatosis type 1 (NF-1) [1], although they account for less than 1% of all orbital tumors [2, 3]. These tumors can cause symptoms such as proptosis, vision impairment, and ocular misalignment [4]. While typically linked to NF-1, multiple isolated orbital neurofibromas in the absence of a definitive NF-1 diagnosis remain exceedingly rare, warranting clinical attention. A 56-year-old female presented with ptosis and dystopia on the right side. MRI revealed multiple intraorbital and extraconal masses, with the largest being excised via anterior orbitotomy. Histopathological analysis confirmed the diagnosis of neurofibroma. The patient had no cutaneous or systemic signs suggestive of NF-1. In adults, multiple orbital tumors should prompt suspicion for neurofibromas, even when NF-1 is not confirmed. Furthermore, recurrence is possible, emphasizing the importance of long-term follow-up. This case highlights the diagnostic challenge posed by orbital neurofibromas without NF-1 and the need for comprehensive systemic evaluation in such presentations.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The crucial role of cerebrospinal fluid cytology in the diagnosis and prognosis of medulloblastoma at M1 stage.","authors":"Nithye Parvathy, Neha Bhardwaj, Radhika Srinivasan, Nalini Gupta, Parikshaa Gupta, Manish Rohilla, Reetu Kundu, Pranab Dey, Kirti Gupta, Nandita Kakkar, Amita Trehan, Paramjeet Singh, Renu Madan, Pravin Salunke","doi":"10.5414/NP301656","DOIUrl":"10.5414/NP301656","url":null,"abstract":"<p><strong>Introduction: </strong>Medulloblastoma is the most common pediatric malignant embryonal tumor of the cerebellum. In the absence of radiologically proven metastasis, lumbar puncture with cytological examination of the cerebrospinal fluid (CSF) is mandatory for identification of the M1 stage. This study aims to evaluate CSF cytomorphology and prognosis of the M1 stage.</p><p><strong>Materials and methods: </strong>A retrospective 6-year audit (2017 - 2023) was performed for all cases of medulloblastoma on histopathology (n = 303). CSF cytology was evaluated in 177 cases on 2 routinely prepared smears after cytocentrifugation. A detailed evaluation of cytomorphological features and corresponding histopathology was performed and correlated with outcome in M1 stage cases (n = 18).</p><p><strong>Results: </strong>Out of 177 cases of histopathology-proven medulloblastoma, CSF cytology was reported as positive for infiltration in 18 cases (14 classical and 4 desmoplastic variants) and were assigned M1 stage. The median age of the patients was 7.5 years. CSF smear showed high cellularity with malignant cell clusters of more than 200 cells in 8 cases, whereas 4 cases had low cellularity with scattered cells and admixed with inflammatory cells. Tumor cells showed a high nucleocytoplasmic ratio, coarse chromatin, and prominent nuclear molding. Nucleoli were inconspicuous in 9 cases but were prominent and eosinophilic in 9 cases. The median overall survival (OS) and progression-free survival (PFS) in M1 stage medulloblastoma was poor, 2 months and 1 month, respectively. There was a difference in age and tumor histology among the M0, M1, and M2/3 stage medulloblastomas.</p><p><strong>Conclusion: </strong>CSF infiltration by medulloblastoma cells characterized by high nucleocytoplasmic ratio, nuclear molding, and coarse chromatin, represents the M1 stage and portends a poor prognosis.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"82-88"},"PeriodicalIF":0.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Neuropathology 3-2025 - 13^th European Congress of Neuropathology: Welcome from the Congress President Bela Kubat.","authors":"Bela Kubat","doi":"10.5414/NPP44097","DOIUrl":"10.5414/NPP44097","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"97"},"PeriodicalIF":0.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Three cases of pituicytoma with a review of the literature and insight into a rare variant of ependymal pituicytoma.","authors":"Koustav Ghosal, Apoorva Kanthaje, Nandita Ghosal, Sunitha Palasamudram, Sumit Thakar, Saritha Aryan","doi":"10.5414/NP301662","DOIUrl":"10.5414/NP301662","url":null,"abstract":"<p><p>Pituicytomas are rare tumors of the pituitary gland arising along the distribution of the neurohypophysis in adults. Due to their rarity and varied radiological appearances, they are difficult to diagnose preoperatively. This is a small case series of 3 cases of pituicytoma, wherein, we highlight a rare case of ependymal pituicytoma in a 46-year-old man who presented with progressive loss of vision on both eyes. The patient presented with a suprasellar mass that on histopathological examinations was diagnosed as ependymal pituicytoma. Both histopathological and radiological diagnostic challenges are discussed of this rare case along with the other two cases of pituicytoma for comparison.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"89-96"},"PeriodicalIF":0.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"13^th European Congress of Neuropathology - Maastricht, the Netherlands, June 11^th - June 14^th, 2025.","authors":"Bela Kubat","doi":"10.5414/NPP44098","DOIUrl":"10.5414/NPP44098","url":null,"abstract":"","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"98-130"},"PeriodicalIF":0.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}